ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter)

dbSNP: rs1579884900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001027978 SCV002020208 likely pathogenic Succinyl-CoA acetoacetate transferase deficiency 2020-07-28 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001027978 SCV001190726 likely pathogenic Succinyl-CoA acetoacetate transferase deficiency 2020-02-05 no assertion criteria provided clinical testing

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